Growth patterns in children with spinal muscular atrophy.
Growth
Nutritional status
Percentiles
Spinal muscular atrophy
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
04 09 2021
04 09 2021
Historique:
received:
28
05
2021
accepted:
24
08
2021
entrez:
5
9
2021
pubmed:
6
9
2021
medline:
7
10
2021
Statut:
epublish
Résumé
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) children can sit, but are not able to walk independently. The Standards of Care has improved quality of life and the increasing availability of disease-modifying treatments is progressively changing the natural history; so, the clinical assessment of nutritional status has become even more crucial. Aims of this multicenter study were to present the growth pattern of treatment-naïve SMA1 and SMA2, and to compare it with the general growth standards. Body Weight (BW, kg) and Supine Length (SL, cm) were collected using a published standardized procedure. SMA-specific growth percentiles curves were developed and compared to the WHO reference data. We recruited 133 SMA1 and 82 SMA2 (48.8% females). Mean ages were 0.6 (0.4-1.6) and 4.1 (2.1-6.7) years, respectively. We present here a set of disease-specific percentiles curves of BW, SL, and BMI-for-age for girls and boys with SMA1 and SMA2. These curves show that BW is significantly lower in SMA than healthy peers, while SL is more variable. BMI is also typically lower in both sexes and at all ages. These data on treatment-naïve patients point toward a better understanding of growth in SMA and could be useful to improve the clinical management and to assess the efficacy of the available and forthcoming therapies not only on motor function, but also on growth.
Sections du résumé
BACKGROUND
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle atrophy and weakness. SMA type 1 (SMA1) is the most severe form: affected infants are unable to sit unaided; SMA type 2 (SMA2) children can sit, but are not able to walk independently. The Standards of Care has improved quality of life and the increasing availability of disease-modifying treatments is progressively changing the natural history; so, the clinical assessment of nutritional status has become even more crucial. Aims of this multicenter study were to present the growth pattern of treatment-naïve SMA1 and SMA2, and to compare it with the general growth standards.
RESULTS
Body Weight (BW, kg) and Supine Length (SL, cm) were collected using a published standardized procedure. SMA-specific growth percentiles curves were developed and compared to the WHO reference data. We recruited 133 SMA1 and 82 SMA2 (48.8% females). Mean ages were 0.6 (0.4-1.6) and 4.1 (2.1-6.7) years, respectively. We present here a set of disease-specific percentiles curves of BW, SL, and BMI-for-age for girls and boys with SMA1 and SMA2. These curves show that BW is significantly lower in SMA than healthy peers, while SL is more variable. BMI is also typically lower in both sexes and at all ages.
CONCLUSIONS
These data on treatment-naïve patients point toward a better understanding of growth in SMA and could be useful to improve the clinical management and to assess the efficacy of the available and forthcoming therapies not only on motor function, but also on growth.
Identifiants
pubmed: 34481516
doi: 10.1186/s13023-021-02015-9
pii: 10.1186/s13023-021-02015-9
pmc: PMC8418717
doi:
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
375Informations de copyright
© 2021. The Author(s).
Références
N Engl J Med. 2018 Feb 15;378(7):625-635
pubmed: 29443664
N Engl J Med. 2021 Mar 11;384(10):915-923
pubmed: 33626251
Muscle Nerve. 2020 Apr;61(4):530-534
pubmed: 32012296
J Child Neurol. 2007 Aug;22(8):1027-49
pubmed: 17761659
Neuromuscul Disord. 2016 Jul;26(7):395-404
pubmed: 27241822
Arch Neurol. 2011 Aug;68(8):979-84
pubmed: 21482919
J Pediatr. 2014 May;164(5):1228-30
pubmed: 24423433
N Engl J Med. 2017 Nov 2;377(18):1723-1732
pubmed: 29091570
Am J Clin Nutr. 2003 Aug;78(2):291-5
pubmed: 12885711
Neuromuscul Disord. 2018 Mar;28(3):197-207
pubmed: 29305137
Eur J Clin Nutr. 2019 Dec;73(12):1646-1648
pubmed: 30647441
Am J Respir Crit Care Med. 2019 Dec 15;200(12):1547-1550
pubmed: 31433957
Neurosci Insights. 2020 Nov 23;15:2633105520973985
pubmed: 33283185
Clin Nutr. 2021 Apr;40(4):1578-1587
pubmed: 33744602
Food Nutr Bull. 2004 Mar;25(1 Suppl):S27-36
pubmed: 15069917
Neuromuscul Disord. 2012 Nov;22(11):966-73
pubmed: 22832342
Pediatr Neurol. 2016 Apr;57:80-3
pubmed: 26803333
Neuromuscul Disord. 2018 Feb;28(2):103-115
pubmed: 29290580
Orphanet J Rare Dis. 2011 Nov 02;6:71
pubmed: 22047105
Orphanet J Rare Dis. 2017 Jul 4;12(1):124
pubmed: 28676062
Clin Nutr. 2017 Dec;36(6):1674-1680
pubmed: 27890489
J Child Neurol. 2014 Nov;29(11):1467-72
pubmed: 24097849
Neuromuscul Disord. 2008 May;18(5):389-93
pubmed: 18420410
Neuromuscul Disord. 2009 Jun;19(6):391-6
pubmed: 19427208
Neuromuscul Disord. 2010 Jul;20(7):448-52
pubmed: 20610154
Neuromuscul Disord. 2015 Jul;25(7):593-602
pubmed: 26045156
Cell. 1995 Jan 13;80(1):155-65
pubmed: 7813012
Stat Med. 1998 Feb 28;17(4):407-29
pubmed: 9496720
Appl Clin Genet. 2021 Jan 25;14:11-25
pubmed: 33531827